Variant report

Variant	rs112426758
Chromosome Location	chr7:26437333-26437334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr7:26437331-26439435	SH-SY5Y	brain:	n/a	chr7:26437759-26437767
2	GATA3	chr7:26437294-26437750	T-47D	breast:	n/a	n/a
3	GATA3	chr7:26437316-26438380	T-47D	breast:	n/a	chr7:26437759-26437767
4	SMC3	chr7:26437303-26439673	SK-N-SH	brain:	n/a	chr7:26437938-26437952 chr7:26437938-26437946

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26435194..26437360-chr7:26480063..26481898,2	K562	blood:

Variant related genes	Relation type
ENSG00000214870	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3374116	chr7:26436952-26439800	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26428200-26437400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:26434000-26437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:26435800-26437600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:26436000-26437400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:26436000-26438600	Enhancers	Fetal Brain Male	brain
6	chr7:26436400-26437400	Enhancers	Fetal Kidney	kidney
7	chr7:26436400-26437600	Enhancers	Fetal Brain Female	brain
8	chr7:26436600-26437400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr7:26436600-26437400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:26436600-26437400	Enhancers	Fetal Lung	lung
11	chr7:26436600-26437400	Enhancers	Fetal Muscle Leg	muscle
12	chr7:26436600-26437400	Enhancers	Fetal Stomach	stomach
13	chr7:26436600-26437400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:26436600-26437600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:26436600-26437600	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:26436600-26437800	Enhancers	Spleen	Spleen
17	chr7:26436800-26437400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:26436800-26437400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:26436800-26437400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:26436800-26437400	Enhancers	Adipose Nuclei	Adipose
21	chr7:26436800-26437400	Enhancers	Colon Smooth Muscle	Colon
22	chr7:26436800-26437600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:26437000-26437400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr7:26437000-26437400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:26437000-26437400	Enhancers	Colonic Mucosa	Colon
26	chr7:26437000-26437400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr7:26437000-26437400	Enhancers	Fetal Intestine Large	intestine
28	chr7:26437000-26437400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr7:26437000-26437400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:26437000-26437600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:26437000-26437600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:26437000-26437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:26437000-26437600	Enhancers	Fetal Intestine Small	intestine
34	chr7:26437000-26437600	Enhancers	Placenta	Placenta
35	chr7:26437000-26437800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr7:26437000-26438000	Enhancers	Fetal Heart	heart
37	chr7:26437200-26437400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:26437200-26437400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:26437200-26437400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:26437200-26437400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:26437200-26437400	Enhancers	Brain Germinal Matrix	brain
42	chr7:26437200-26437400	Enhancers	GM12878-XiMat	blood
43	chr7:26437200-26437600	Bivalent Enhancer	Fetal Thymus	thymus
44	chr7:26437200-26439400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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